A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
Häffner
K
K
Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt-Universität, Berlin, Germany.
Speer
A
A
Hübner
C
C
Voit
T
T
Oexle
K
K
D000293:Adolescent; D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D001665:Binding Sites / Q000235:genetics; D002154:Calpain / Q000235:genetics* / Q000378:metabolism; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D010450:Endopeptidases / Q000378:metabolism; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D016364:Reading Frames / Q000235:genetics*; D017384:Sequence Deletion
D004247:DNA; D010450:Endopeptidases; D002154:Calpain; C078134:calpain p94